Variant report

Variant	rs1031543
Chromosome Location	chr18:11501803-11501804
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr18:11500107-11501966	HepG2	liver:	n/a	n/a
2	MAX	chr18:11501347-11501852	HepG2	liver:	n/a	n/a
3	JUND	chr18:11500375-11501935	HepG2	liver:	n/a	chr18:11500649-11500659 chr18:11500649-11500660 chr18:11500575-11500584 chr18:11500648-11500659 chr18:11500650-11500659 chr18:11500574-11500583
4	EP300	chr18:11500141-11501958	HepG2	liver:	n/a	chr18:11500695-11500709
5	FOXA2	chr18:11500508-11501973	HepG2	liver:	n/a	n/a
6	ARID3A	chr18:11500265-11501942	HepG2	liver:	n/a	n/a
7	MAX	chr18:11501255-11501932	HepG2	liver:	n/a	n/a
8	FOXA1	chr18:11501393-11501813	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000267252	TF binding region

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs1031540	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031541	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1031542	0.86[AMR][1000 genomes]
rs1031544	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10445418	0.90[EUR][1000 genomes]
rs10468622	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10468623	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10468624	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10468625	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10468678	0.86[EUR][1000 genomes]
rs1455242	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1940934	0.89[EUR][1000 genomes]
rs1985449	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155683	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2155775	0.90[EUR][1000 genomes]
rs2155776	0.90[EUR][1000 genomes]
rs2298531	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298532	0.86[AMR][1000 genomes]
rs28379046	0.89[EUR][1000 genomes]
rs28458831	0.88[EUR][1000 genomes]
rs28525549	0.90[EUR][1000 genomes]
rs28565004	0.89[EUR][1000 genomes]
rs28619985	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3819088	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4239298	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4347691	0.87[EUR][1000 genomes]
rs4496226	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496227	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4555212	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4561535	0.90[EUR][1000 genomes]
rs4796926	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796927	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796928	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796929	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4796930	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4797541	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797542	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797543	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4797545	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4797546	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4797547	0.85[AMR][1000 genomes]
rs4797548	0.82[AMR][1000 genomes]
rs4797549	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4797550	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4797551	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4797552	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4797553	0.90[EUR][1000 genomes]
rs5004595	0.86[EUR][1000 genomes]
rs5004596	0.89[EUR][1000 genomes]
rs5004597	0.89[EUR][1000 genomes]
rs5004598	0.89[EUR][1000 genomes]
rs55724046	0.90[EUR][1000 genomes]
rs55977730	0.90[EUR][1000 genomes]
rs56720897	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56916392	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58000805	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58414632	0.89[EUR][1000 genomes]
rs58674932	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59432389	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59753404	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59970782	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60298221	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60369151	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60949636	0.90[EUR][1000 genomes]
rs66498154	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66565638	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66844185	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67146326	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67273891	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67290984	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67482905	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67818523	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7226636	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7226808	0.86[AMR][1000 genomes]
rs7227865	0.90[EUR][1000 genomes]
rs7227957	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7228446	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7228991	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7229302	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7230248	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7230843	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7232167	0.90[EUR][1000 genomes]
rs7232404	0.89[EUR][1000 genomes]
rs7233013	0.90[EUR][1000 genomes]
rs7240498	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7241482	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7242789	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7244205	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7244529	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7244660	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72877316	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs732870	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732871	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732872	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73408951	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73408953	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs734575	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745990	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084029	0.90[EUR][1000 genomes]
rs8088252	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8093677	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8093875	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8094323	0.88[EUR][1000 genomes]
rs8094650	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303735	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9303736	0.86[AMR][1000 genomes]
rs9303737	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9303738	0.91[EUR][1000 genomes]
rs9303739	0.90[EUR][1000 genomes]
rs948286	0.88[EUR][1000 genomes]
rs9630759	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9944609	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9945383	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9946715	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9946975	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9946991	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9950369	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9950652	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9951253	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9953743	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9953784	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9954457	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9954648	0.86[AMR][1000 genomes]
rs9957164	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9957329	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9957350	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9957500	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9957518	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9957674	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9961424	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9963650	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9964001	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9964344	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9964361	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9966638	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9967575	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1056541	chr18:11336695-11558542	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv543651	chr18:11336695-11558542	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv458031	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv576482	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv909381	chr18:11431945-11609487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2204	chr18:11499825-11544209	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11493800-11502400	Enhancers	HSMM	muscle
2	chr18:11493800-11502600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr18:11493800-11502600	Enhancers	NHDF-Ad	bronchial
4	chr18:11495600-11502000	Enhancers	Hela-S3	cervix
5	chr18:11496400-11502800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr18:11496800-11502400	Enhancers	NHLF	lung
7	chr18:11497600-11502600	Enhancers	HMEC	breast
8	chr18:11498600-11502600	Enhancers	HSMMtube	muscle
9	chr18:11499600-11502800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr18:11500200-11502200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:11500200-11506600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:11500600-11502600	Enhancers	NH-A	brain
13	chr18:11501000-11505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr18:11501200-11502600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr18:11501400-11502400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:11501400-11502600	Enhancers	A549	lung
17	chr18:11501600-11504000	Enhancers	HepG2	liver
18	chr18:11501800-11502400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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